Beating the odds: Rare prolonged survival of truncus arteriosus: A case report with literature review.

Rationale: Truncus arteriosus is a cyanotic congenital heart disease in which the great vessels of the heart fail to separate in utero. Consequently, a single truncal vessel arises from the heart to supply the systemic, coronary, and pulmonary circulations. This lesion causes the total mixing of oxygenated and deoxygenated blood, with an early onset of pulmonary vascular disease. Patients rarely survive beyond the first year of life. This case report highlights a rare survival without intervention up to the ninth year of life.

Patient Concerns: We present the case of a 9-year-old male child with a history of dark discoloration of the lips and digits, easy fatigability, and fast breathing since birth. The patient is currently small for his age, with a bulging anterior chest wall, displaced apex beat, and cardiac murmur. Oxygen saturation was 57% in room air. A chest radiograph showed peri-hilar lymphadenopathy with prominent pulmonary trunks. Pack cell volume was 62%, and the gene expert test was negative.

Diagnoses: A diagnosis of cyanotic congenital heart disease, truncus arteriosus type III with pulmonary hypertension, was made after diagnostic evaluation with echocardiography.

Interventions: To manage congestive heart failure, the patient was put on diuretics, including furosemide and spironolactone. Parents could not carry out a definitive surgical repair due to financial constraints.

Outcomes: Although the patient was able to survive the past year, the child had developed cardiomegaly, signs of pulmonary congestion, decreased oxygenation, and a compensatory increase in red blood cell volume.

Lessons: Truncus arteriosus is a critical congenital heart defect that has a high potential for morbidity and mortality within the first year of life. It requires immediate intervention and surgical repair in the immediate neonatal period. In rare cases, patients have been able to survive beyond the first year, especially if they also developed pulmonary stenosis. However, this patient had been a survivor for 9 years without another structural anomaly. Given the unique presentation and its rarity, further research is needed into compensatory mechanisms and possible low-cost and accessible alternatives in resource-constrained settings. It also demonstrates that pharmacologic therapy alone is insufficient to prevent mortality.